Marfanoid habitus-autosomal recessive intellectual disability syndrome

Orpha code: 2463OMIM code: 248770

Definicja

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Fragoso-Cantú syndrome
Kod ORPHA
2463
Kod OMIM
248770
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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